ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies (Q24324164)

GOA release 2020-03-11

brain development

1 reference

GOA release 2020-03-11

author

Elia Stupka

19

0 references

Dorothy Thompson

21

Dorothy A Thompson

0 references

Francesco Lescai

Francesco Lescai

6

0 references

Mohammed Al Balwi

M Balwi

12

0 references

Jane Sowden

Jane C Sowden

25

0 references

Cynthia L Andoniadou

Cynthia L Andoniadou

7

0 references

Fowzan S Alkuraya

23

Fowzan S Alkuraya

0 references

Mehul T Dattani

26

Mehul T Dattani

0 references

Daniel Kelberman

3

Daniel Kelberman

0 references

author name string

Emma A Webb

1

0 references

Angham AlMutair

2

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Chiara Bacchelli

4

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Estelle Chanudet

5

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Abdul Banyan

8

0 references

Al Alsawaid

9

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Muhammad T Alrifai

10

0 references

Mohammed A Alahmesh

11

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Seyedeh N Mousavy-Gharavy

13

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Biljana Lukovic

14

0 references

Derek Burke

15

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Mark J McCabe

16

0 references

Tessa Kasia

17

0 references

Robert Kleta

18

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Philip L Beales

20

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W Kling Chong

22

0 references

Juan-Pedro Martinez-Barbera

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development

24

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language of work or name

English

0 references

publication date

October 2013

0 references

published in

Brain

0 references

volume

136

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issue

Pt 10

0 references

page(s)

3096-105

0 references

cites work

1 reference

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Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

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Defective development of secretory neurones in the hypothalamus of Arnt2-knockout mice

19 March 2017

1 reference

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Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

19 March 2017

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Expression of Arnt and Arnt2 mRNA in developing murine tissues

19 March 2017

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cDNA cloning and tissue-specific expression of a novel basic helix-loop-helix/PAS factor (Arnt2) with close sequence similarity to the aryl hydrocarbon receptor nuclear translocator (Arnt)

19 March 2017

1 reference

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Proneural genes and the specification of neural cell types

19 March 2017

1 reference

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Regulation of cytoplasmic mRNA decay

7 April 2017

1 reference

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Roles of oxytocin neurones in the control of stress, energy metabolism, and social behaviour

27 September 2017

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Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans

27 September 2017

1 reference

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Genetic regulation of pituitary gland development in human and mouse

27 September 2017

1 reference

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Nonsense-mediated mRNA decay (NMD) mechanisms

27 September 2017

1 reference

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Context dependence of proneural bHLH proteins

27 September 2017

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Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

27 September 2017

1 reference

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Nonsense-mediated mRNA decay in mammals

27 September 2017

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27 September 2017

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The mammalian basic helix-loop-helix/PAS family of transcriptional regulators

27 September 2017

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Identification of the downstream targets of SIM1 and ARNT2, a pair of transcription factors essential for neuroendocrine cell differentiation

27 September 2017

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27 September 2017

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Somatostatin is required for masculinization of growth hormone-regulated hepatic gene expression but not of somatic growth

27 September 2017

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Targeted mutation of the murine arylhydrocarbon receptor nuclear translocator 2 (Arnt2) gene reveals partial redundancy with Arnt

27 September 2017

1 reference

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Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1.

27 September 2017

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The Drosophila single-minded gene encodes a helix-loop-helix protein that acts as a master regulator of CNS midline development

27 September 2017

1 reference

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Sim1a and Arnt2 contribute to hypothalamo-spinal axon guidance by regulating Robo2 activity via a Robo3-dependent mechanism.

27 September 2017

1 reference

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27 September 2017

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Classification system for malformations of cortical development: update 2001.

30 May 2018

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ARNT2, a transcription factor for brain neuron survival?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT218

Cloning and selective expression in brain and kidney of ARNT2 homologous to the Ah receptor nuclear translocator (ARNT).

21 January 2018

1 reference

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Expression of ARNT, ARNT2, HIF1 alpha, HIF2 alpha and Ah receptor mRNAs in the developing mouse.

21 January 2018

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Erratum: Regulation of cytoplasmic mRNA decay

21 January 2018

1 reference

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ARNT2 acts as the dimerization partner of SIM1 for the development of the hypothalamus

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24022475

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Medical versus surgical treatment of primary vesicoureteral reflux: report of the International Reflux Study Committee

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24022475